Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency
about
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsCytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseMutation screening in patients with isolated cytochrome c oxidase deficiencyMitochondrial disorders of the nuclear genomePost-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.Loss of function of Sco1 and its interaction with cytochrome c oxidase.Mitochondrial encephalomyopathies.Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in DrosophilaRescue of PINK1 protein null-specific mitochondrial complex IV deficits by ginsenoside Re activation of nitric oxide signalingDefective splicing, disease and therapy: searching for master checkpoints in exon definition.SURF1 deficiency: a multi-centre natural history study.Grape Powder Improves Age-Related Decline in Mitochondrial and Kidney Functions in Fischer 344 RatsApproaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Chromosome conformation capture of all 13 genomic Loci in the transcriptional regulation of the multisubunit bigenomic cytochrome C oxidase in neurons.The power of yeast to model diseases of the powerhouse of the cell.Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencingExome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.Leigh syndrome: the genetic heterogeneity story continues.A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L geneSplicing and Disease
P2860
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P2860
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency
description
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2001
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im Mai 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: May 2001)
@en
vedecký článok (publikovaný 2001-05)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd in 2001-05)
@nl
مقالة علمية (نشرت في 16-4-2001)
@ar
name
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@ast
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@en
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@nl
type
label
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@ast
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@en
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@nl
altLabel
Mutations in theSURF1gene asso ...... cytochromecoxidase deficiency
@en
prefLabel
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@ast
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@en
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@nl
P2093
P2860
P3181
P1433
P1476
Mutations in the SURF1 gene as ...... ytochrome C oxidase deficiency
@en
Mutations in theSURF1gene asso ...... cytochromecoxidase deficiency
@en
P2093
Alain Poyau
Caroline Sue
Catherine Godinot
Cécile Marsac
M O Péquignot
P2860
P3181
P356
10.1002/HUMU.1112
10.1002/HUMU.1112.ABS
P407
P577
2001-04-16T00:00:00Z
2001-05-01T00:00:00Z